Canonical Allele Identifier: CA403632681

Gene: C3

Linked Data

• ClinVar Variation Id: 1513934
• ClinVar RCV Id: RCV002018514
• dbSNP Id: rs2145411555
• MyVariant Identifiers: chr19:g.6697395T>A (hg19) ; chr19:g.6697384T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697384T>A , CM000681.2:g.6697384T>A	GRCh38
NC_000019.9:g.6697395T>A , CM000681.1:g.6697395T>A	GRCh37
NC_000019.8:g.6648395T>A	NCBI36
NG_009557.1:g.28268A>T , LRG_27:g.28268A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1104A>T
ENST00000695652.1:c.2633A>T	ENSP00000512083.1:p.His878Leu
ENST00000695653.1:c.665A>T	ENSP00000512084.1:p.His222Leu
ENST00000695654.1:c.1880A>T	ENSP00000512085.1:p.His627Leu
ENST00000695655.1:c.1697A>T	ENSP00000512086.1:n.1697A>T
ENST00000695692.1:n.2120A>T
ENST00000245907.11:c.2756A>T MANE Select	ENSP00000245907.4:p.His919Leu
ENST00000245907.10:c.2756A>T	ENSP00000245907.4:p.His919Leu
ENST00000594005.1:n.332A>T
NM_000064.3:c.2756A>T	NP_000055.2:p.His919Leu
NM_000064.4:c.2756A>T MANE Select	NP_000055.2:p.His919Leu